Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 607629 MIM: 615782 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
APH1A PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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APH1A - aph-1 homolog A, gamma-secretase subunit | ||||||
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There are no transcripts associated with this gene. |
C1orf54 - chromosome 1 open reading frame 54 | ||||||
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There are no transcripts associated with this gene. |
CIART - circadian associated repressor of transcription | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300838.1 | 404 | Silent Mutation | CAA,CAG | Q,Q 109 | NP_001287767.1 | |
NM_001300839.1 | 404 | Silent Mutation | CAA,CAG | Q,Q 21 | NP_001287768.1 | |
NM_001300840.1 | 404 | Silent Mutation | CAA,CAG | Q,Q 21 | NP_001287769.1 | |
NM_001300841.1 | 404 | Silent Mutation | CAA,CAG | Q,Q 21 | NP_001287770.1 | |
NM_144697.3 | 404 | Silent Mutation | CAA,CAG | Q,Q 109 | NP_653298.1 | |
XM_017000378.1 | 404 | UTR 5 | XP_016855867.1 |
Set Membership: |
JSNP |